Canonical Allele Identifier: CA1139666904

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 970111
• ClinVar RCV Id: RCV001245625
• dbSNP Id: rs2078657129

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125891_46125893del , CM000683.2:g.46125891_46125893del	GRCh38
NC_000021.8:g.47545805_47545807del , CM000683.1:g.47545805_47545807del	GRCh37
NC_000021.7:g.46370233_46370235del	NCBI36
NG_008675.1:g.32773_32775del , LRG_476:g.32773_32775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.2076_2078del MANE Plus Clinical	ENSP00000380870.1:p.Lys692del
ENST00000300527.9:c.2076_2078del MANE Select	ENSP00000300527.4:p.Lys692del
ENST00000409416.6:c.2076_2078del	ENSP00000387115.1:p.Lys692del
ENST00000300527.8:c.2076_2078del	ENSP00000300527.4:p.Lys692del
ENST00000310645.9:c.2076_2078del	ENSP00000312529.5:p.Lys692del
ENST00000397763.5:c.2076_2078del	ENSP00000380870.1:p.Lys692del
ENST00000409416.5:c.2076_2078del	ENSP00000387115.1:p.Lys692del
ENST00000413758.1:c.747_749del	ENSP00000395751.1:p.Lys249del
NM_001849.3:c.2076_2078del , LRG_476t1:c.2076_2078del	NP_001840.3:p.Lys692del
NM_058174.2:c.2076_2078del	NP_478054.2:p.Lys692del
NM_058175.2:c.2076_2078del	NP_478055.2:p.Lys692del
XM_011529451.1:c.2076_2078del	XP_011527753.1:p.Lys692del
XM_011529452.1:c.2076_2078del	XP_011527754.1:p.Lys692del
XR_937438.1:n.2153_2155del
XR_937439.1:n.2153_2155del
XR_937438.2:n.2160_2162del
XR_937439.2:n.2160_2162del
NM_001849.4:c.2076_2078del MANE Select	NP_001840.3:p.Lys692del
NM_058174.3:c.2076_2078del MANE Plus Clinical	NP_478054.2:p.Lys692del
NM_058175.3:c.2076_2078del	NP_478055.2:p.Lys692del